Canonical Allele Identifier: CA2245716264
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225012A= , CM000679.2:g.7225012A= GRCh38
NC_000017.10:g.7128331A= , CM000679.1:g.7128331A= GRCh37
NC_000017.9:g.7069055A= NCBI36
NG_007975.1:g.10179A=
NG_008391.2:g.39T=
NG_033038.1:g.14533T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1883A= MANE Select ENSP00000349297.5:p.Gln628=
ENST00000322910.9:c.*1838A= ENSP00000325395.5:n.*1838A=
ENST00000350303.9:c.1817A= ENSP00000344152.5:p.Gln606=
ENST00000356839.9:c.1883A= ENSP00000349297.5:p.Gln628=
ENST00000542255.6:c.762A=
ENST00000543245.6:c.1952A= ENSP00000438689.2:p.Gln651=
ENST00000578033.1:n.308A=
ENST00000578319.5:n.464A=
ENST00000578711.1:n.1508A=
ENST00000578809.5:n.455A=
ENST00000579425.5:n.999A=
ENST00000583848.5:c.249A= ENSP00000466487.1:n.249A=
ENST00000583850.5:n.654A=
ENST00000583858.5:c.814A=
NM_000018.3:c.1883A= NP_000009.1:p.Gln628=
NM_001033859.2:c.1817A= NP_001029031.1:p.Gln606=
NM_001270447.1:c.1952A= NP_001257376.1:p.Gln651=
NM_001270448.1:c.1655A= NP_001257377.1:p.Gln552=
XM_006721516.2:c.1904A= XP_006721579.2:p.Gln635=
XM_011523829.1:c.1802A= XP_011522131.1:p.Gln601=
XM_011523830.1:c.1781A= XP_011522132.1:p.Gln594=
XR_934021.1:n.1986A=
XR_934022.1:n.1892A=
XR_934023.1:n.1913A=
XM_006721516.3:c.1904A= XP_006721579.2:p.Gln635=
XM_011523829.2:c.1802A= XP_011522131.1:p.Gln601=
XM_011523830.2:c.1781A= XP_011522132.1:p.Gln594=
XM_024450741.1:c.1871A= XP_024306509.1:p.Gln624=
XR_934021.2:n.1938A=
XR_934022.2:n.1844A=
XR_934023.2:n.1865A=
NM_000018.4:c.1883A= MANE Select NP_000009.1:p.Gln628=
NM_001033859.3:c.1817A= NP_001029031.1:p.Gln606=
NM_001270447.2:c.1952A= NP_001257376.1:p.Gln651=
NM_001270448.2:c.1655A= NP_001257377.1:p.Gln552=